Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive

Preferred Label : Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, t cell-negative, b cell-negative, nk cell-positive;

Description : Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the recombinase activating gene 2 (RAG2, 179616.0001); Caused by mutations in the recombinase activating gene 1 (RAG1, 179615.0001);

Laboratory abnormalities : Panhypogammaglobulinemia;

Prefixed ID : #601457;

Details

Origin ID

601457;

UMLS CUI

C1832322;

Automatic exact mappings (from CISMeF team)
- Severe combined immunodeficiency due to DCLRE1C deficiency [ORDO Disease]
- Severe combined immunodeficiency due to complete RAG1/2 deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Severe combined immunodeficiency [ORDO Disease]
Currated CISMeF NLP mapping
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DO Concept]
DO Cross reference
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DO Concept]
Genes related to phenotype
- Recombination-activating gene 1 [OMIM gene]
- Recombination-activating gene 2 [OMIM gene]
HPO term(s)
- Abnormality of the face [HPO term]
- Arthritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Conjunctivitis [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Failure to thrive secondary to recurrent infections [HPO term]
- Frequent opportunistic infections [HPO term]
- Mastoiditis [HPO term]
- Meningitis [HPO term]
- Otitis media [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumonia [HPO term]
- Purulent rhinitis [HPO term]
- Recurrent opportunistic infections [HPO term]
- Severe combined immunodeficiency [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to complete RAG1/2 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to complete RAG1/2 deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DO Concept]

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